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  • 1-10 ل  66 نتائج ل ""Medicinska och farmaceutiska grundvetenskaper""

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Publication : european journal of human genetics
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Academic Journal

Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families

Subjects: Medical and Health Sciences; Clinical Medicine; Cancer and Oncology

  • Source: European Journal of Human Genetics.

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Academic Journal

Contributions of de novo variants to systemic lupus erythematosus

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 29(1):184-193

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Academic Journal

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 29(3):365-377

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Academic Journal

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics.

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Academic Journal

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice

Subjects: Medical and Health Sciences; Health Sciences; Medical Ethics

  • Source: European Journal of Human Genetics. 30(5):493-495

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Academic Journal

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Subjects: Medical and Health Sciences; Clinical Medicine; Medicin och hälsovetenskap

  • Source: European Journal of Human Genetics. 27(3):432-441

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Report

From Mendel to Medical Genetics

  • Authors : Kristoffersson, Ulf; Macek, Milan; Lund University, Faculty of Medicine, Department of Laboratory Medicine, Division of Clinical Genetics, Lunds universitet, Medicinska fakulteten, Institutionen för laboratoriemedicin, Avdelningen för klinisk genetik, Originator

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 25(s2):S53-S59

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Academic Journal

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 23(6):729-735

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Academic Journal

Genes identified in Asian SLE GWASs are also associated with SLE in Caucasian populations

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 21(9):994-999

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Academic Journal

An excess of chromosome 1 breakpoints in male infertility.

Subjects: Medical and Health Sciences; Basic Medicine; Medical Genetics and Genomics (including Gene Therapy)

  • Source: European Journal of Human Genetics. 12(12):993-1000

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  • 1-10 ل  66 نتائج ل ""Medicinska och farmaceutiska grundvetenskaper""